title: Cloning and sequence analysis of the human parathyroid hormone gene region.
abstract: A region of 50 kb around the human PTH gene was cloned and mapped by restriction analysis. Sequence analysis was performed and 3270bp determined, completing the sequence of the gene. The nucleotide sequence was analysed with regard to homology between human, bovine and rat PTH genes, and various potential cis-acting regulatory elements were identified. The gene region lacks an obvious CpG island. The PTH gene region in patients suffering from (pseudo)-hypoparathyroidism was investigated by Southern blotting. No detectable alteration in the fragment patterns was observed. Results of segregation analysis in families with affected individuals was inconclusive.
authors.affiliation: Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: W
authors.initials: W
authors.lastname: Hecht
authors.forename: R
authors.initials: R
authors.lastname: Gröger
authors.forename: I
authors.initials: I
authors.lastname: Böhm
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: W
authors.initials: W
authors.lastname: Lindenmaier
authors.forename: H
authors.initials: H
authors.lastname: Mayer
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D000818:Animals; D001483:Base Sequence; D002417:Cattle; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010281:Parathyroid Hormone / Q000235:genetics*; D010375:Pedigree; D051381:Rats; D012689:Sequence Homology, Nucleic Acid
chemical_list: D010281:Parathyroid Hormone; D004247:DNA